Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75764673C>A , CM000676.2:g.75764673C>A | GRCh38 |
| NC_000014.8:g.76231016C>A , CM000676.1:g.76231016C>A | GRCh37 |
| NC_000014.7:g.75300769C>A | NCBI36 |
| NG_016974.1:g.108466C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298832.14:c.1609C>A MANE Select | ENSP00000298832.9:p.Leu537Met | |
| ENST00000298832.13:c.1609C>A | ENSP00000298832.9:p.Leu537Met | |
| ENST00000554510.5:c.136C>A | ENSP00000451946.1:p.Leu46Met | |
| ENST00000555422.5:n.915C>A | ||
| ENST00000556893.5:c.262C>A | ENSP00000452524.1:p.Leu88Met | |
| ENST00000556976.1:n.343C>A | ||
| ENST00000557636.5:c.1651C>A | ENSP00000450713.1:p.Leu551Met | |
| NM_015072.4:c.1609C>A | NP_055887.3:p.Leu537Met | |
| NM_015072.5:c.1609C>A MANE Select | NP_055887.3:p.Leu537Met |